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Terminology chevron_right Concepts chevron_right 75893003

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Component

75893003

The component that hold information about this concept.

Fully Specified Name (FSN)

19q partial trisomy syndrome (disorder)

Shortest Term

19q partial trisomy syndrome

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

19q partial trisomy syndrome (disorder)

SCTID: 75893003, Primitive, Active

75893003|19q partial trisomy syndrome (disorder)|

en 19q partial trisomy syndrome
en 19q partial trisomy syndrome (disorder)

Expression

75893003 |19q partial trisomy syndrome (disorder)|
 <<< 726358004 |Partial trisomy of chromosome 19 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89959003 |Chromosome pair 19 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
126066011 - 19q partial trisomy syndrome (en) View
126066011	en	Synonym (core metadata concept)	19q partial trisomy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
816553010 - 19q partial trisomy syndrome (disorder) (en) View
816553010	en	Fully specified name (core metadata concept)	19q partial trisomy syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (271398023) - 75893003 -> 79656000 (116680003) View
116680003 \|Is a (attribute)\|	79656000 \|Anomaly of chromosome pair 19 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (271399026) - 75893003 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6992973028) - 75893003 -> 726358004 (116680003) View
116680003 \|Is a (attribute)\|	726358004 \|Partial trisomy of chromosome 19 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (863424026) - 75893003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (863427022) - 75893003 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3327689027) - 75893003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008144020) - 75893003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010717029) - 75893003 -> 89959003 (363698007) View
363698007 \|Finding site (attribute)\|	89959003 \|Chromosome pair 19 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024726023) - 75893003 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3327690020) - 75893003 -> 89959003 (363698007) View
363698007 \|Finding site (attribute)\|	89959003 \|Chromosome pair 19 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (863426029) - 75893003 -> 89959003 (363698007) View
363698007 \|Finding site (attribute)\|	89959003 \|Chromosome pair 19 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2601316026) - 75893003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (863428028) - 75893003 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (863425025) - 75893003 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
726358004 View
726358004	Partial trisomy of chromosome 19 (disorder)	Duplication of chromosome 19	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
766052008 View
766052008	Distal trisomy 19q syndrome (disorder)	Distal trisomy 19q	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (8cdd5309-8199-56f9-a194-e05b7fc04653) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q92.8	TRUE	ALWAYS Q92.8	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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